CDCP1
Chr 3CUB domain containing protein 1
Also known as: CD318, SIMA135, TRASK
This gene encodes a transmembrane protein containing three extracellular CUB domains that functions as a substrate for Src family kinases and is involved in cell adhesion and cell-matrix interactions. The gene is highly constrained against loss-of-function variants (pLI near 1, LOEUF 0.65), but no established Mendelian diseases have been associated with CDCP1 mutations in pediatric populations. Current evidence suggests its primary relevance is in oncology rather than developmental neurological disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
140 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 108 | 2 | 0 | 111 |
Likely Benign | 0 | 6 | 0 | 0 | 6 |
Benign | 0 | 2 | 0 | 1 | 3 |
| Total | 1 | 116 | 10 | 1 | 128 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDCP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools